hereditary spastic paraplegia 48

Summary
Synonym
  • SPG48
  • autosomal recessive spastic paraplegia 48
  • autosomal recessive spastic paraplegia type 48
Definition
A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1.
Super Class
autosomal recessive disease hereditary spastic paraplegia
Related Genes
Displaying entries 1 - 10 of 15 in total
Gene ID Gene Symbol Description Source
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
2583 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1
3897 L1CAM L1 cell adhesion molecule
4099 MAG myelin associated glycoprotein
5833 PCYT2 phosphate cytidylyltransferase 2, ethanolamine
8398 PLA2G6 phospholipase A2 group VI
8869 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
9197 SLC33A1 solute carrier family 33 member 1
9420 CYP7B1 cytochrome P450 family 7 subfamily B member 1
10908 PNPLA6 patatin like phospholipase domain containing 6

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024